Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.W2*

GHSR

186 papers

RefSeq Summary

This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are exp...

Pfam Domains

7tm_1aa 60–323UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

growth hormone secretagogue receptor

HGNC Alias Symbols

GHS-R1a; GHS-R; GHSR-1a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_198407.2
p.W2*
c.6G>A
Surrounding Variants
3 papers
NM_198407.2
p.W2C
c.6G>C
7 papers
NM_198407.2
p.W2*
c.5G>A
1 paper
NM_198407.2
p.M1R
c.2T>G
1 paper
NM_198407.2
p.A4V
c.11C>T
1 paper
NM_198407.2
p.T5S
c.13A>T
1 paper
NM_198407.2
p.P10R
c.29C>G
1 paper
NM_198407.2
p.A17A
c.51C>T
5 papers
NM_198407.2
p.D20D
c.60C>T
1 paper
NM_198407.2
p.W21L
c.62G>T
1 paper
NM_198407.2
p.P25P
c.75C>T
1 paper
NM_198407.2
p.G31V
c.92G>T
1 paper
NM_198407.2
p.L16_G31del16
c.46_92del48
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."